Short-chain hydroxyacyl-coenzyme A dehydrogenase deficiency presenting as unexpected infant death: A family study

J Pediatr. 2000 Aug;137(2):257-9. doi: 10.1067/mpd.2000.107467.

Abstract

We describe a case of liver-specific short-chain hydroxyacyl-coenzyme A dehydrogenase deficiency. Enzymatic confirmation of heterozygosity was shown in family members, illustrating the recessive nature of this new disorder. Heterozygous carriers did not present with biochemical abnormalities when challenged by fasting.

Publication types

  • Case Reports

MeSH terms

  • 3-Hydroxyacyl CoA Dehydrogenases / deficiency*
  • 3-Hydroxyacyl CoA Dehydrogenases / genetics
  • Child, Preschool
  • Female
  • Heterozygote
  • Humans
  • Infant
  • Infant, Newborn
  • Liver / enzymology
  • Liver / pathology
  • Male
  • Metabolism, Inborn Errors / diagnosis*
  • Metabolism, Inborn Errors / genetics
  • Sudden Infant Death / diagnosis*

Substances

  • 3-Hydroxyacyl CoA Dehydrogenases